Patiroglu Turkan, Gungor Hatice Eke, Unal Ekrem
Erciyes University Department of Paediatrics, Division of Paediatric Immunology, Kayseri, Turkey.
Acta Microbiol Immunol Hung. 2012 Sep;59(3):343-53. doi: 10.1556/AMicr.59.2012.3.5.
Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders that genetically affect distinct components of the immune system; thus, predispose individuals to recurrent infections, allergy, autoimmunity, and malignancies. In this retrospective study, autoimmune diseases (ADs), which developed during the course of PID in children, were discussed.Twenty-five patients were included in this study. Symptoms related to ADs, such as autoimmune thyroiditis, type 1 diabetes mellitus, coeliac disease, juvenile idiopathic arthritis, dermatomyositis, autoimmune haemolytic anaemia, leukocytoclastic vasculitis, Henoch-Schonlein purpura, hypoparathyroidism, alopecia areata, Addison's disease, vitiligo and systemic lupus erythematosus were detected in these patients, who have been followed with diagnosis of PID including common variable immunodeficiency, selective and partial IgA deficiency, Wiskott-Aldrich syndrome, ataxia telangiectasia, hyperimmunoglobulin E syndrome, chronic mucocutaneous candidiasis, Griscelli syndrome, and partial C4 deficiency.Immunodeficiency and autoimmune phenomenon may concomitantly present in an individual, although they seem to be incompatible ends in the spectrum of the clinical immune response. Patients with primary immune deficiency should be closely monitored for development of autoimmune diseases.
原发性免疫缺陷病(PIDs)是一组异质性疾病,在基因层面影响免疫系统的不同组成部分;因此,使个体易患反复感染、过敏、自身免疫性疾病和恶性肿瘤。在这项回顾性研究中,对儿童PID病程中发生的自身免疫性疾病(ADs)进行了讨论。本研究纳入了25例患者。在这些被诊断为PID(包括常见变异型免疫缺陷、选择性和部分IgA缺乏、维斯科特-奥尔德里奇综合征、共济失调毛细血管扩张症、高免疫球蛋白E综合征、慢性黏膜皮肤念珠菌病、格里塞利综合征和部分C4缺乏)并接受随访的患者中,检测到了与ADs相关的症状,如自身免疫性甲状腺炎、1型糖尿病、乳糜泻、幼年特发性关节炎、皮肌炎、自身免疫性溶血性贫血、白细胞破碎性血管炎、过敏性紫癜、甲状旁腺功能减退、斑秃、艾迪生病、白癜风和系统性红斑狼疮。免疫缺陷和自身免疫现象可能同时出现在一个个体中,尽管它们在临床免疫反应谱中似乎是相互矛盾的两端。原发性免疫缺陷患者应密切监测自身免疫性疾病的发生。